| Nomenclature |
|---|
| HGNC (Hugo) | GTF2H1 4655 |
| Cards |
|---|
| Entrez_Gene (NCBI) | GTF2H1 2965 general transcription factor IIH subunit 1 |
| Aliases | BTF2; P62; TFB1; TFIIH |
| GeneCards (Weizmann) | GTF2H1 |
| Ensembl hg19 (Hinxton) | ENSG00000110768 [Gene_View] |
| Ensembl hg38 (Hinxton) | ENSG00000110768 [Gene_View] ENSG00000110768 [Sequence] chr11:18322269-18367043 [Contig_View] GTF2H1 [Vega] |
| ICGC DataPortal | ENSG00000110768 |
| TCGA cBioPortal | GTF2H1 |
| AceView (NCBI) | GTF2H1 |
| Genatlas (Paris) | GTF2H1 |
| WikiGenes | 2965 |
| SOURCE (Princeton) | GTF2H1 |
| Genetics Home Reference (NIH) | GTF2H1 |
| Genomic and cartography |
|---|
| GoldenPath hg38 (UCSC) | GTF2H1 - chr11:18322269-18367043 + 11p15.1 [Description] (hg38-Dec_2013) |
| GoldenPath hg19 (UCSC) | GTF2H1 - 11p15.1 [Description] (hg19-Feb_2009) |
| GoldenPath | GTF2H1 - 11p15.1 [CytoView hg19] GTF2H1 - 11p15.1 [CytoView hg38] |
| ImmunoBase | ENSG00000110768 |
| Mapping of homologs : NCBI | GTF2H1 [Mapview hg19] GTF2H1 [Mapview hg38] |
| OMIM | 189972 |
| Gene and transcription |
|---|
| Genbank (Entrez) | AI275181 AK027003 AK127204 AK299621 AK299730 |
| RefSeq transcript (Entrez) | NM_001142307 NM_005316 |
| RefSeq genomic (Entrez) | |
| Consensus coding sequences : CCDS (NCBI) | GTF2H1 |
| Cluster EST : Unigene | Hs.577202 [ NCBI ] |
| CGAP (NCI) | Hs.577202 |
| Alternative Splicing Gallery | ENSG00000110768 |
| Gene Expression | GTF2H1 [ NCBI-GEO ] GTF2H1 [ EBI - ARRAY_EXPRESS ]
GTF2H1 [ SEEK ] GTF2H1 [ MEM ] |
| Gene Expression Viewer (FireBrowse) | GTF2H1 [ Firebrowse - Broad ] |
| SOURCE (Princeton) | Expression in : [Datasets] [Normal Tissue Atlas] [carcinoma Classsification] [NCI60] |
| Genevestigator | Expression in : [tissues] [cell-lines] [cancer] [perturbations] |
| BioGPS (Tissue expression) | 2965 |
| GTEX Portal (Tissue expression) | GTF2H1 |
| Human Protein Atlas | ENSG00000110768-GTF2H1 [pathology] [cell] [tissue] |
| Protein : pattern, domain, 3D structure |
|---|
| UniProt/SwissProt | P32780 [function] [subcellular_location] [family_and_domains] [pathology_and_biotech] [ptm_processing] [expression] [interaction] |
| NextProt | P32780 [Sequence] [Exons] [Medical] [Publications] |
| With graphics : InterPro | P32780 |
| Splice isoforms : SwissVar | P32780 |
| PhosPhoSitePlus | P32780 |
| Domaine pattern : Prosite (Expaxy) | BSD (PS50858) |
| Domains : Interpro (EBI) | BSD_dom PH-like_dom_sf Tfb1/GTF2H1 TFIIH_BTF_p62_N |
| Domain families : Pfam (Sanger) | BSD (PF03909) PH_TFIIH (PF08567) |
| Domain families : Pfam (NCBI) | pfam03909 pfam08567 |
| Domain families : Smart (EMBL) | BSD (SM00751) |
| Conserved Domain (NCBI) | GTF2H1 |
| DMDM Disease mutations | 2965 |
| Blocks (Seattle) | GTF2H1 |
| PDB (RSDB) | 1PFJ 2DII 2RNR 2RUK 2RVB 5GOW 5XV8 |
| PDB Europe | 1PFJ 2DII 2RNR 2RUK 2RVB 5GOW 5XV8 |
| PDB (PDBSum) | 1PFJ 2DII 2RNR 2RUK 2RVB 5GOW 5XV8 |
| PDB (IMB) | 1PFJ 2DII 2RNR 2RUK 2RVB 5GOW 5XV8 |
| Structural Biology KnowledgeBase | 1PFJ 2DII 2RNR 2RUK 2RVB 5GOW 5XV8 |
| SCOP (Structural Classification of Proteins) | 1PFJ 2DII 2RNR 2RUK 2RVB 5GOW 5XV8 |
| CATH (Classification of proteins structures) | 1PFJ 2DII 2RNR 2RUK 2RVB 5GOW 5XV8 |
| Superfamily | P32780 |
| Human Protein Atlas [tissue] | ENSG00000110768-GTF2H1 [tissue] |
| Peptide Atlas | P32780 |
| HPRD | 01807 |
| IPI | IPI00030380 IPI00908648 IPI00976467 IPI01025365 IPI00977011 IPI00983928 IPI01011880 |
| Protein Interaction databases |
|---|
| DIP (DOE-UCLA) | P32780 |
| IntAct (EBI) | P32780 |
| FunCoup | ENSG00000110768 |
| BioGRID | GTF2H1 |
| STRING (EMBL) | GTF2H1 |
| ZODIAC | GTF2H1 |
| Ontologies - Pathways |
|---|
| QuickGO | P32780 |
| Ontology : AmiGO | regulation of cyclin-dependent protein serine/threonine kinase activity transcription factor TFIIH core complex nucleotide-excision repair, DNA duplex unwinding chromatin binding protein kinase activity protein binding nucleoplasm nucleoplasm transcription factor TFIIH holo complex transcription factor TFIIH holo complex DNA repair transcription-coupled nucleotide-excision repair nucleotide-excision repair, preincision complex stabilization nucleotide-excision repair, preincision complex assembly nucleotide-excision repair, DNA incision, 3'-to lesion nucleotide-excision repair, DNA incision, 5'-to lesion transcription by RNA polymerase I transcription initiation from RNA polymerase I promoter transcription elongation from RNA polymerase I promoter termination of RNA polymerase I transcription transcription by RNA polymerase II transcription by RNA polymerase II transcription by RNA polymerase II transcription initiation from RNA polymerase II promoter transcription elongation from RNA polymerase II promoter 7-methylguanosine mRNA capping DNA-dependent ATPase activity DNA-dependent ATPase activity RNA polymerase II CTD heptapeptide repeat kinase activity RNA polymerase II CTD heptapeptide repeat kinase activity nucleotide-excision repair, DNA incision positive regulation of transcription by RNA polymerase II phosphorylation of RNA polymerase II C-terminal domain global genome nucleotide-excision repair |
| Ontology : EGO-EBI | regulation of cyclin-dependent protein serine/threonine kinase activity transcription factor TFIIH core complex nucleotide-excision repair, DNA duplex unwinding chromatin binding protein kinase activity protein binding nucleoplasm nucleoplasm transcription factor TFIIH holo complex transcription factor TFIIH holo complex DNA repair transcription-coupled nucleotide-excision repair nucleotide-excision repair, preincision complex stabilization nucleotide-excision repair, preincision complex assembly nucleotide-excision repair, DNA incision, 3'-to lesion nucleotide-excision repair, DNA incision, 5'-to lesion transcription by RNA polymerase I transcription initiation from RNA polymerase I promoter transcription elongation from RNA polymerase I promoter termination of RNA polymerase I transcription transcription by RNA polymerase II transcription by RNA polymerase II transcription by RNA polymerase II transcription initiation from RNA polymerase II promoter transcription elongation from RNA polymerase II promoter 7-methylguanosine mRNA capping DNA-dependent ATPase activity DNA-dependent ATPase activity RNA polymerase II CTD heptapeptide repeat kinase activity RNA polymerase II CTD heptapeptide repeat kinase activity nucleotide-excision repair, DNA incision positive regulation of transcription by RNA polymerase II phosphorylation of RNA polymerase II C-terminal domain global genome nucleotide-excision repair |
| Pathways : KEGG | Basal transcription factors Nucleotide excision repair Viral carcinogenesis |
| NDEx Network | GTF2H1 |
| Atlas of Cancer Signalling Network | GTF2H1 |
| Wikipedia pathways | GTF2H1 |
| Orthology - Evolution |
|---|
| OrthoDB | 2965 |
| GeneTree (enSembl) | ENSG00000110768 |
| Phylogenetic Trees/Animal Genes : TreeFam | GTF2H1 |
| HOGENOM | P32780 |
| Homologs : HomoloGene | GTF2H1 |
| Homology/Alignments : Family Browser (UCSC) | GTF2H1 |
| Gene fusions - Rearrangements |
|---|
| Fusion : Mitelman | GAREM/GTF2H1 [18q12.1/11p15.1] [t(11;18)(p15;q12)] |
| Fusion : Mitelman | GTF2H1/HPS5 [11p15.1/11p15.1] [t(11;11)(p15;p15)] |
| Fusion : Mitelman | TNPO1/GTF2H1 [5q13.2/11p15.1] [t(5;11)(q13;p15)] |
| Fusion Portal | FAM59A GTF2H1 11p15.1 BRCA |
| Fusion Portal | GTF2H1 11p15.1 HPS5 11p15.1 BRCA |
| Fusion Portal | TNPO1 5q13.2 GTF2H1 11p15.1 BRCA |
| Fusion : Quiver | GTF2H1 |
| Polymorphisms : SNP and Copy number variants |
|---|
| NCBI Variation Viewer | GTF2H1 [hg38] |
| dbSNP Single Nucleotide Polymorphism (NCBI) | GTF2H1 |
| dbVar | GTF2H1 |
| ClinVar | GTF2H1 |
| 1000_Genomes | GTF2H1 |
| Exome Variant Server | GTF2H1 |
| ExAC (Exome Aggregation Consortium) | ENSG00000110768 |
| GNOMAD Browser | ENSG00000110768 |
| Varsome Browser | GTF2H1 |
| Genetic variants : HAPMAP | 2965 |
| Genomic Variants (DGV) | GTF2H1 [DGVbeta] |
| DECIPHER | GTF2H1 [patients] [syndromes] [variants] [genes] |
| CONAN: Copy Number Analysis | GTF2H1 |
| Mutations |
|---|
| ICGC Data Portal | GTF2H1 |
| TCGA Data Portal | GTF2H1 |
| Broad Tumor Portal | GTF2H1 |
| OASIS Portal | GTF2H1 [ Somatic mutations - Copy number] |
| Somatic Mutations in Cancer : COSMIC | GTF2H1 [overview] [genome browser] [tissue] [distribution] |
| Somatic Mutations in Cancer : COSMIC3D | GTF2H1 |
| Mutations and Diseases : HGMD | GTF2H1 |
| LOVD (Leiden Open Variation Database) | Whole genome datasets |
| LOVD (Leiden Open Variation Database) | LOVD - Leiden Open Variation Database |
| LOVD (Leiden Open Variation Database) | LOVD 3.0 shared installation |
| BioMuta | search GTF2H1 |
| DgiDB (Drug Gene Interaction Database) | GTF2H1 |
| DoCM (Curated mutations) | GTF2H1 (select the gene name) |
| CIViC (Clinical Interpretations of Variants in Cancer) | GTF2H1 (select a term) |
| intoGen | GTF2H1 |
| Cancer3D | GTF2H1(select the gene name) |
| Impact of mutations | [PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser] |
| Diseases |
|---|
| OMIM | 189972 |
| Orphanet | |
| DisGeNET | GTF2H1 |
| Medgen | GTF2H1 |
| Genetic Testing Registry | GTF2H1
|
| NextProt | P32780 [Medical] |
| TSGene | 2965 |
| GENETests | GTF2H1 |
| Target Validation | GTF2H1 |
| Huge Navigator |
GTF2H1 [HugePedia] |
| snp3D : Map Gene to Disease | 2965 |
| BioCentury BCIQ | GTF2H1 |
| ClinGen | GTF2H1 |
| Clinical trials, drugs, therapy |
|---|
| Chemical/Protein Interactions : CTD | 2965 |
| Chemical/Pharm GKB Gene | PA29041 |
| Clinical trial | GTF2H1 |
| Miscellaneous |
|---|
| canSAR (ICR) | GTF2H1 (select the gene name) |
| DataMed Index | GTF2H1 |
| Probes |
|---|
| Litterature |
|---|
| PubMed | 132 Pubmed reference(s) in Entrez |
| GeneRIFs | Gene References Into Functions (Entrez) |
| CoreMine | GTF2H1 |
| EVEX | GTF2H1 |
| GoPubMed | GTF2H1 |
| iHOP | GTF2H1 |
